### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IRX5) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "IRX5" "iroquois homeobox 5" "16" "q12.2" "unknown" "NG_032773.1" "UD_136087884903" "" "https://www.LOVD.nl/IRX5" "" "1" "14361" "10265" "606195" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/IRX5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-06-01 00:00:00" "00006" "2021-02-08 09:26:11" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024284" "IRX5" "transcript variant 1" "001" "NM_005853.5" "" "NP_005844.4" "" "" "" "1" "2064" "1452" "54965111" "54968397" "00006" "2017-07-04 20:31:58" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00994" "HMMS" "Hamamy syndrome (HMMS)" "AR" "611174" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04281" "CDLS" "Cornelia de Lange syndrome (CDLS)" "" "" "" "" "" "00006" "2015-06-15 14:50:45" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IRX5" "00994" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00107879" "" "" "" "2" "" "00006" "{PMID:Bonnard 2012:22581230}" "3-generation family, 2 affected deceased brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "FamTurPatIII4" "00107880" "" "" "" "3" "" "00006" "{PMID:Bonnard 2012:22581230}" "2-generation family, 3 affected sibs, unaffected heterozygous carrier parents/relatives (F, 2M)" "M" "yes" "Jordan" "" "0" "" "" "" "FamJorPatIII1" "00307950" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "familial" "M" "" "" "" "0" "" "" "" "15DG0633" "00329220" "" "" "00107879" "1" "" "00006" "{PMID:Bonnard 2012:22581230}" "brother" "M" "yes" "Turkey" "" "0" "" "" "" "FamTurPatIII5" "00329221" "" "" "00107880" "1" "" "00006" "{PMID:Bonnard 2012:22581230}" "brother" "M" "yes" "Jordan" "" "0" "" "" "" "FamJorPatIII2" "00329222" "" "" "00107880" "1" "" "00006" "{PMID:Bonnard 2012:22581230}" "sister" "F" "yes" "Jordan" "" "0" "" "" "" "FamJorPatIII4" "00329224" "" "" "" "1" "" "00006" "{PMID:Roukoz 2019:30729910}" "" "M" "yes" "Haiti" "" "0" "" "" "" "patient" "00436376" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "HDAC8-Pat4" "00448017" "" "" "" "1" "" "00006" "{PMID:Carss 2017:28041643}" "patient" "F" "" "" "" "0" "" "" "Europe" "G005492" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00107879" "00994" "00107880" "00994" "00307950" "00139" "00329220" "00994" "00329221" "00994" "00329222" "00994" "00329224" "00994" "00436376" "00198" "00436376" "04281" "00448017" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00994, 04214, 04281 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000085633" "00994" "00107879" "00006" "Familial, autosomal recessive" "" "no craniosynostosis; brachycephaly; no bulging midface; laterally sparse eyebrows; severe telecanthus/hypertelorism; broad nasal bridge/pointed nasal tips/anteverted nostrils; high arched palate; smooth/long philtrum; thin upper vermillion border/wide mouth; low-set/ear abnormalities; no bilateral preauricular tags; no mild micrognathia; low posterior hair line/extra frontal hair whorl; pterygium colli/slopping shoulder; syndactyly/tapering fingers/long toes/5th finger clinodactyly; total A-V canal; inguinal hernia; cryptorchidism and absence of gonad activity" "" "" "" "" "" "" "" "" "HMMS" "" "" "0000085634" "00994" "00107880" "00006" "Familial, autosomal recessive" "" "craniosynostosis; brachycephaly; bulging midface; laterally sparse eyebrows; severe telecanthus/hypertelorism; severe progressive myopia; absence/dysfunction of nasolacrimal structures; no dysfunction of parotid glands; broad nasal bridge/pointed nasal tips/anteverted nostrils; high arched palate; smooth/long philtrum; thin upper vermillion border/wide mouth; loss of lamina dura; thin enamel/enamel hypoplasia; low-set/ear abnormalities; no bilateral preauricular tags; sensori neural hearing impairment; mild micrognathia; low posterior hair line/extra frontal hair whorl; generalized osteopenia; long bone fractures; hip dysplasia; no pectus excavatum; pterygium colli/slopping shoulder; no syndactyly/tapering fingers/long toes/5th finger clinodactyly; thumb deviation/ectopic finger creases/long fingers/short index; tiny patent ductus arteriosus; no mild mitral regurgitation; no atrial septal defect; intraventricular conduction delay; no total A-V canal; inguinal hernia; no hypoparathyroidism; cryptorchidism and absence of gonad activity; microcytic hypochromic anemia; moderate psychomotor retardation; unclear speech" "" "" "" "" "" "" "" "" "HMMS" "" "" "0000233373" "00139" "00307950" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., Global developmental delay, Autism, Epicanthus, Downslanted palpebral fissures, Microtia, Short neck, Abnormal facial shape" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000247412" "00994" "00329220" "00006" "Familial, autosomal recessive" "" "no craniosynostosis; brachycephaly; no bulging midface; laterally sparse eyebrows; severe telecanthus/hypertelorism; severe progressive myopia; absence/dysfunction of nasolacrimal structures; no dysfunction of parotid glands; broad nasal bridge/pointed nasal tips/anteverted nostrils; high arched palate; smooth/long philtrum; thin upper vermillion border/wide mouth; loss of lamina dura; thin enamel/enamel hypoplasia; worn out teeth/malocclusion/hypodontia; low-set/ear abnormalities; bilateral preauricular tags; sensori neural hearing impairment; no mild micrognathia; low posterior hair line/extra frontal hair whorl; no generalized osteopenia; long bone fractures; hip dysplasia; no pectus excavatum; no pterygium colli/slopping shoulder; syndactyly/tapering fingers/long toes/5th finger clinodactyly; thumb deviation/ectopic finger creases/long fingers/short index; no tiny patent ductus arteriosus; no mild mitral regurgitation; no atrial septal defect; intraventricular conduction delay; no total A-V canal; inguinal hernia; hypoparathyroidism; cryptorchidism and absence of gonad activity; microcytic hypochromic anemia; swallowing difficulties; moderate psychomotor retardation; unclear speech" "" "" "" "" "" "" "" "" "HMMS" "" "" "0000247413" "00994" "00329221" "00006" "Familial, autosomal recessive" "" "craniosynostosis; brachycephaly; bulging midface; laterally sparse eyebrows; severe telecanthus/hypertelorism; severe progressive myopia; absence/dysfunction of nasolacrimal structures; dysfunction of parotid glands; broad nasal bridge/pointed nasal tips/anteverted nostrils; high arched palate; smooth/long philtrum; thin upper vermillion border/wide mouth; loss of lamina dura; thin enamel/enamel hypoplasia; low-set/ear abnormalities; no bilateral preauricular tags; sensori neural hearing impairment; mild micrognathia; low posterior hair line/extra frontal hair whorl; generalized osteopenia; long bone fractures; hip dysplasia; pectus excavatum; pterygium colli/slopping shoulder; no syndactyly/tapering fingers/long toes/5th finger clinodactyly; thumb deviation/ectopic finger creases/long fingers/short index; no tiny patent ductus arteriosus; mild mitral regurgitation; no atrial septal defect; intraventricular conduction delay; no total A-V canal; inguinal hernia; no hypoparathyroidism; cryptorchidism and absence of gonad activity; microcytic hypochromic anemia; moderate psychomotor retardation; unclear speech" "" "" "" "" "" "" "" "" "HMMS" "" "" "0000247414" "00994" "00329222" "00006" "Familial, autosomal recessive" "" "craniosynostosis; brachycephaly; bulging midface; laterally sparse eyebrows; severe telecanthus/hypertelorism; no severe progressive myopia; absence/dysfunction of nasolacrimal structures; broad nasal bridge/pointed nasal tips/anteverted nostrils; high arched palate; smooth/long philtrum; thin upper vermillion border/wide mouth; low-set/ear abnormalities; no bilateral preauricular tags; sensori neural hearing impairment; mild micrognathia; low posterior hair line/extra frontal hair whorl; generalized osteopenia; long bone fractures; hip dysplasia; pterygium colli/slopping shoulder; no syndactyly/tapering fingers/long toes/5th finger clinodactyly; thumb deviation/ectopic finger creases/long fingers/short index; no tiny patent ductus arteriosus; no mild mitral regurgitation; atrial septal defect; intraventricular conduction delay; no total A-V canal; no inguinal hernia; microcytic hypochromic anemia; moderate psychomotor retardation; unclear speech" "" "" "" "" "" "" "" "" "HMMS" "" "" "0000247416" "00994" "00329224" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMMS" "" "" "0000326555" "04281" "00436376" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS5" "xeroderma pigmentosa" "" "0000326560" "00198" "00436376" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HMMS" "" "" "0000337206" "04214" "00448017" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000108348" "00107879" "1" "00006" "00002" "2012-06-01 14:01:15" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000108349" "00107880" "1" "00006" "00002" "2012-06-01 14:01:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000309094" "00307950" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000330438" "00329220" "1" "00006" "00006" "2021-02-08 09:52:00" "" "" "SEQ" "DNA" "" "" "0000330440" "00329221" "1" "00006" "00006" "2021-02-08 10:02:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000330441" "00329222" "1" "00006" "00006" "2021-02-08 10:03:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000330442" "00329224" "1" "00006" "00006" "2021-02-08 10:26:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437858" "00436376" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000449590" "00448017" "1" "00006" "00006" "2024-02-09 18:12:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000108348" "IRX5" "0000108349" "IRX5" "0000309094" "IRX5" "0000330438" "IRX5" "0000330440" "IRX5" "0000330441" "IRX5" "0000330442" "IRX5" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 19 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000174273" "3" "70" "16" "54966608" "54966608" "subst" "0" "00006" "IRX5_000002" "g.54966608G>C" "" "{PMID:Bonnard 2012:22581230}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54932696G>C" "" "likely pathogenic (recessive)" "" "0000174274" "3" "70" "16" "54966658" "54966658" "subst" "0" "00006" "IRX5_000001" "g.54966658C>A" "" "{PMID:Bonnard 2012:22581230}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54932746C>A" "" "likely pathogenic (recessive)" "" "0000281563" "0" "10" "16" "54967096" "54967096" "subst" "0.384929" "02325" "IRX5_000004" "g.54967096C>A" "" "" "" "IRX5(NM_005853.6):c.763C>A (p.P255T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54933184C>A" "" "benign" "" "0000289738" "0" "50" "16" "54965280" "54965280" "subst" "0" "01943" "IRX5_000003" "g.54965280C>T" "" "" "" "IRX5(NM_005853.5):c.170C>T (p.P57L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54931368C>T" "" "VUS" "" "0000289739" "0" "30" "16" "54967220" "54967220" "subst" "0.000117217" "01943" "IRX5_000005" "g.54967220C>A" "" "" "" "IRX5(NM_005853.5):c.887C>A (p.P296Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54933308C>A" "" "likely benign" "" "0000558469" "0" "30" "16" "54967132" "54967132" "subst" "2.27149E-5" "01943" "IRX5_000007" "g.54967132C>T" "" "" "" "IRX5(NM_005853.5):c.799C>T (p.P267S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54933220C>T" "" "likely benign" "" "0000558470" "0" "50" "16" "54967598" "54967598" "subst" "0.000176441" "01943" "IRX5_000008" "g.54967598A>G" "" "" "" "IRX5(NM_005853.5):c.1265A>G (p.H422R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54933686A>G" "" "VUS" "" "0000657869" "0" "50" "16" "54967754" "54967754" "subst" "8.24185E-6" "01943" "IRX5_000009" "g.54967754A>G" "" "" "" "IRX5(NM_005853.5):c.1421A>G (p.Y474C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54933842A>G" "" "VUS" "" "0000683557" "3" "90" "16" "54967138" "54967138" "dup" "0" "00006" "IRX5_000010" "g.54967138dup" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1, PM2,PP1" "Germline" "" "" "0" "" "" "g.54933226dup" "" "pathogenic (recessive)" "ACMG" "0000715034" "3" "70" "16" "54966608" "54966608" "subst" "0" "00006" "IRX5_000002" "g.54966608G>C" "" "{PMID:Bonnard 2012:22581230}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54932696G>C" "" "likely pathogenic (recessive)" "" "0000715036" "3" "70" "16" "54966658" "54966658" "subst" "0" "00006" "IRX5_000001" "g.54966658C>A" "" "{PMID:Bonnard 2012:22581230}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54932746C>A" "" "likely pathogenic (recessive)" "" "0000715037" "3" "70" "16" "54966658" "54966658" "subst" "0" "00006" "IRX5_000001" "g.54966658C>A" "" "{PMID:Bonnard 2012:22581230}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54932746C>A" "" "likely pathogenic (recessive)" "" "0000715039" "3" "70" "16" "54966663" "54966663" "subst" "0" "00006" "IRX5_000011" "g.54966663G>A" "" "{PMID:Roukoz 2019:30729910}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000854548" "0" "30" "16" "54967266" "54967266" "subst" "9.88396E-6" "01943" "IRX5_000012" "g.54967266C>G" "" "" "" "IRX5(NM_005853.5):c.933C>G (p.P311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933286" "1" "90" "16" "54967695" "54967701" "delins" "0" "00006" "IRX5_000013" "g.54967695_54967701delinsGT" "" "{PMID:Yuan 2019:30158690}" "" "" "" "Germline" "" "" "0" "" "" "g.54933783_54933789delinsGT" "" "likely pathogenic" "" "0000933287" "2" "70" "16" "54965350" "54965352" "del" "0" "00006" "IRX5_000014" "g.54965350_54965352del" "" "{PMID:Yuan 2019:30158690}" "" "240_242delCTC" "" "Germline" "" "" "0" "" "" "g.54931438_54931440del" "" "likely pathogenic" "" "0000960006" "3" "70" "16" "54967695" "54967699" "del" "0" "00006" "IRX5_000015" "g.54967695_54967699del" "" "{PMID:Carss 2017:28041643}" "" "1362_1366delTAAAG" "candidate disease gene" "Germline" "" "" "0" "" "" "g.54933783_54933787del" "" "VUS" "" "0001055594" "0" "50" "16" "54965350" "54965352" "del" "0" "01804" "IRX5_000014" "g.54965350_54965352del" "" "" "" "IRX5(NM_005853.6):c.240_242del (p.(Ser81del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055595" "0" "50" "16" "54967138" "54967138" "del" "0" "01804" "IRX5_000016" "g.54967138del" "" "" "" "IRX5(NM_005853.6):c.805del (p.(Arg269AlafsTer98))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes IRX5 ## Count = 19 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000174273" "00024284" "70" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "2" "0000174274" "00024284" "70" "498" "0" "498" "0" "c.498C>A" "r.(?)" "p.(Asn166Lys)" "2" "0000281563" "00024284" "10" "763" "0" "763" "0" "c.763C>A" "r.(?)" "p.(Pro255Thr)" "" "0000289738" "00024284" "50" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Pro57Leu)" "" "0000289739" "00024284" "30" "887" "0" "887" "0" "c.887C>A" "r.(?)" "p.(Pro296Gln)" "" "0000558469" "00024284" "30" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Pro267Ser)" "" "0000558470" "00024284" "50" "1265" "0" "1265" "0" "c.1265A>G" "r.(?)" "p.(His422Arg)" "" "0000657869" "00024284" "50" "1421" "0" "1421" "0" "c.1421A>G" "r.(?)" "p.(Tyr474Cys)" "" "0000683557" "00024284" "90" "805" "0" "805" "0" "c.805dup" "r.(?)" "p.(Arg269Profs*187)" "" "0000715034" "00024284" "70" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "2" "0000715036" "00024284" "70" "498" "0" "498" "0" "c.498C>A" "r.(?)" "p.(Asn166Lys)" "2" "0000715037" "00024284" "70" "498" "0" "498" "0" "c.498C>A" "r.(?)" "p.(Asn166Lys)" "2" "0000715039" "00024284" "70" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "" "0000854548" "00024284" "30" "933" "0" "933" "0" "c.933C>G" "r.(?)" "p.(Pro311=)" "" "0000933286" "00024284" "90" "1362" "0" "1368" "0" "c.1362_1368delinsGT" "r.(?)" "p.(Lys455Serfs*19)" "" "0000933287" "00024284" "70" "240" "0" "242" "0" "c.240_242del" "r.(?)" "p.(Ser81del)" "" "0000960006" "00024284" "70" "1362" "0" "1366" "0" "c.1362_1366del" "r.(?)" "p.(Lys455ProfsTer19)" "" "0001055594" "00024284" "50" "240" "0" "242" "0" "c.240_242del" "r.(?)" "p.(Ser81del)" "" "0001055595" "00024284" "50" "805" "0" "805" "0" "c.805del" "r.(?)" "p.(Arg269Alafs*98)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000108348" "0000174273" "0000108349" "0000174274" "0000309094" "0000683557" "0000330438" "0000715034" "0000330440" "0000715036" "0000330441" "0000715037" "0000330442" "0000715039" "0000437858" "0000933286" "0000437858" "0000933287" "0000449590" "0000960006"